MCID: XRD010
MIFTS: 62

Xeroderma Pigmentosum, Variant Type

Categories: Genetic diseases, Rare diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Xeroderma Pigmentosum, Variant Type

MalaCards integrated aliases for Xeroderma Pigmentosum, Variant Type:

Name: Xeroderma Pigmentosum, Variant Type 53 72 49 28 13
Xeroderma Pigmentosum 12 72 23 49 24 36 28 13 51 41 14
Xpv 53 12 49 55 71
Xeroderma Pigmentosum with Normal Dna Repair Rates 53 12 49 71
Photosensitivity with Defective Dna Synthesis 53 12 49
Xeroderma Pigmentosum Variant Type 12 71 14
Xp 49 24
De Sanctis-Cacchione Syndrome 69
Xeroderma Pigmentosum Variant 55
Desanctis-Cacchione Syndrome 24
Xeroderma Pigmentosa 49

Characteristics:

Orphanet epidemiological data:

55
xeroderma pigmentosum variant
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
xeroderma pigmentosum, variant type:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Xeroderma Pigmentosum, Variant Type

NIH Rare Diseases : 49 Xeroderma pigmentosum (XP) is an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition mostly affects the eyes and areas of skin exposed to the sun. Some affected individuals also have problems involving the nervous system. Symptoms typically develop by the time a child is 2 years old. Xeroderma pigmentosum is caused by mutations in genes that are involved in repairing damaged DNA. Inherited mutations in at least nine genes have been identified. The condition is inherited in an autosomal recessive manner. People with XP need total protection from sunlight. This includes protective clothing, sunscreen, and dark sunglasses when out in the sun. To prevent skin cancer, medications like retinoid creams may be prescribed. Skin cancers that do develop should be treated using standard practices. Last updated: 6/24/2016

MalaCards based summary : Xeroderma Pigmentosum, Variant Type, also known as xeroderma pigmentosum, is related to xeroderma pigmentosum, complementation group c and xeroderma pigmentosum, complementation group f, and has symptoms including photophobia, dry skin and melanoma. An important gene associated with Xeroderma Pigmentosum, Variant Type is POLH (DNA Polymerase Eta), and among its related pathways/superpathways are Nucleotide excision repair and DNA Double-Strand Break Repair. The drugs Lenalidomide and Angiogenesis Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include skin and eye, and related phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

OMIM : 53 Xeroderma pigmentosum is an autosomal recessive disorder characterized by increased sensitivity to sunlight and defects in DNA repair. For a general overview of the disorder, see XPA (278700). Some patients with xeroderma pigmentosum have been found to have normal DNA excision repair, but defective postreplication repair (Lehman et al., 1975). This XP 'variant' class is characterized by a defect in conversion of newly synthesized DNA from low to high molecular weight after UV irradiation (Masutani et al., 1999). So-called 'pigmentary xerodermoid' is apparently identical to the XP variant, which is characterized by loss of a gene product that permits normal cells to replicate DNA without interruption at UV-damaged sites (Cleaver et al., 1980). (278750)

UniProtKB/Swiss-Prot : 71 Xeroderma pigmentosum variant type: An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. XPV shows normal nucleotide excision repair, but an exaggerated delay in recovery of replicative DNA synthesis. Most patients with the variant type of xeroderma pigmentosum do not develop clinical symptoms and skin neoplasias until a later age. Clinical manifestations are limited to photo-induced deterioration of the skin and eyes.

Genetics Home Reference : 24 Xeroderma pigmentosum, which is commonly known as XP, is an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition mostly affects the eyes and areas of skin exposed to the sun. Some affected individuals also have problems involving the nervous system.

Disease Ontology : 12 An autosomal recessive disease that is characterized by a deficiency in the ability to repair ultraviolet damage that has material basis in autosomal recessive inheritance of DNA repair.

GeneReviews: NBK1397

Related Diseases for Xeroderma Pigmentosum, Variant Type

Diseases in the Xeroderma Pigmentosum, Variant Type family:

Xeroderma Pigmentosum, Type 2 Xeroderma Pigmentosum, Type 9

Diseases related to Xeroderma Pigmentosum, Variant Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 xeroderma pigmentosum, complementation group c 34.1 CETN2 DDB2 ERCC3 RAD23B XPA XPC
2 xeroderma pigmentosum, complementation group f 33.7 DDB2 ERCC1 ERCC2 ERCC4 ERCC5 RAD23B
3 xeroderma pigmentosum, complementation group g 33.7 DDB2 ERCC1 ERCC3 ERCC4 ERCC5 RAD23B
4 xeroderma pigmentosum, complementation group a 32.1 ERCC1 POLH XPA
5 chromosome xp deletion 12.2
6 cerebrooculofacioskeletal syndrome 1 10.5 ERCC2 ERCC5
7 lung papillary adenocarcinoma 10.4 ERCC1 TP53
8 diffuse gastric cancer 10.4 ERCC1 ERCC2 XRCC3
9 cockayne syndrome a 10.4 ERCC2 ERCC4 ERCC5
10 xfe progeroid syndrome 10.4 ERCC1 ERCC4
11 uv-sensitive syndrome 10.4 ERCC2 ERCC3 ERCC5
12 integumentary system cancer 10.4 POLH TP53 XPA
13 acoustic neuroma 10.3 ERCC4 ERCC5 OGG1
14 cockayne syndrome b 10.3 ERCC2 XPA
15 autosomal recessive disease 10.3 ERCC2 ERCC3 XPA
16 non-proliferative fibrocystic change of the breast 10.2 TP53 XRCC1
17 trichothiodystrophy 1, photosensitive 10.2 ERCC1 ERCC2 ERCC3 ERCC5 XPA
18 differentiated thyroid carcinoma 10.2 TP53 XRCC1 XRCC3
19 cerebro-oculo-facio-skeletal syndrome 10.2 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5
20 xeroderma pigmentosum, complementation group b 10.2 ERCC1 ERCC2 ERCC3 RAD23B XPA
21 fanconi anemia, complementation group a 10.2 ERCC1 ERCC2 ERCC4 HPRT1
22 papilledema 10.0 OGG1 TP53
23 autosomal genetic disease 10.0 ERCC1 ERCC2 TP53 XPA XRCC1 XRCC3
24 basal cell carcinoma 10.0 ERCC1 ERCC2 TP53 XPA XRCC1 XRCC3
25 aging 10.0
26 hepatitis 9.9
27 melanoma 9.9
28 xeroderma pigmentosum, complementation group e 9.9 CUL4A DDB1 DDB2 ERCC5 XPA XPC
29 mutagen sensitivity 9.8 ERCC2 RAD23B TP53 XPA XPC XRCC1
30 xeroderma pigmentosum group e 9.7 CUL4A DDB1 DDB2 POLH RAD23B XPA
31 xeroderma pigmentosum, complementation group d 9.7 ERCC1 ERCC2 ERCC3 OGG1 RAD23B XPA
32 cockayne syndrome 9.4 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4

Graphical network of the top 20 diseases related to Xeroderma Pigmentosum, Variant Type:



Diseases related to Xeroderma Pigmentosum, Variant Type

Symptoms & Phenotypes for Xeroderma Pigmentosum, Variant Type

Symptoms via clinical synopsis from OMIM:

53
Eyes:
photophobia
keratitis
conjunctivitis
ectropion
entropion

Misc:
no growth retardation, microcephaly, congenital malformations or other abnormalities

Skin:
telangiectasia
poikiloderma
skin atrophy
keratoacanthomas
skin photosensitivity
more
Lab:
normal dna repair after ultraviolet radiation
defect in recovery of post-uv dna synthesis
damage


Clinical features from OMIM:

278750

Human phenotypes related to Xeroderma Pigmentosum, Variant Type:

55 31 (show top 50) (show all 62)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 photophobia 55 31 frequent (33%) Frequent (79-30%) HP:0000613
2 dry skin 55 31 frequent (33%) Frequent (79-30%) HP:0000958
3 melanoma 55 31 frequent (33%) Frequent (79-30%) HP:0002861
4 keratitis 55 31 frequent (33%) Frequent (79-30%) HP:0000491
5 cutaneous photosensitivity 55 31 hallmark (90%) Very frequent (99-80%) HP:0000992
6 squamous cell carcinoma 55 31 frequent (33%) Frequent (79-30%) HP:0002860
7 hypopigmentation of the skin 55 31 hallmark (90%) Very frequent (99-80%) HP:0001010
8 telangiectasia 55 31 frequent (33%) Frequent (79-30%) HP:0001009
9 poikiloderma 55 31 hallmark (90%) Very frequent (99-80%) HP:0001029
10 dermal atrophy 55 31 frequent (33%) Frequent (79-30%) HP:0004334
11 basal cell carcinoma 55 31 frequent (33%) Frequent (79-30%) HP:0002671
12 freckles in sun-exposed areas 55 31 hallmark (90%) Very frequent (99-80%) HP:0007603
13 ataxia 31 occasional (7.5%) HP:0001251
14 arthralgia 31 hallmark (90%) HP:0002829
15 fatigue 31 hallmark (90%) HP:0012378
16 fever 31 hallmark (90%) HP:0001945
17 seizures 31 occasional (7.5%) HP:0001250
18 abnormality of extrapyramidal motor function 31 occasional (7.5%) HP:0002071
19 spasticity 31 occasional (7.5%) HP:0001257
20 failure to thrive 31 hallmark (90%) HP:0001508
21 eeg abnormality 31 hallmark (90%) HP:0002353
22 developmental regression 31 hallmark (90%) HP:0002376
23 cataract 31 frequent (33%) HP:0000518
24 delayed skeletal maturation 31 occasional (7.5%) HP:0002750
25 craniofacial hyperostosis 31 occasional (7.5%) HP:0004493
26 abnormality of the dentition 31 hallmark (90%) HP:0000164
27 microcephaly 31 occasional (7.5%) HP:0000252
28 sensorineural hearing impairment 31 frequent (33%) HP:0000407
29 optic atrophy 31 hallmark (90%) HP:0000648
30 short stature 31 occasional (7.5%) HP:0004322
31 cognitive impairment 31 hallmark (90%) HP:0100543
32 aminoaciduria 31 occasional (7.5%) HP:0003355
33 hyperkeratosis 31 frequent (33%) HP:0000962
34 peripheral neuropathy 31 occasional (7.5%) HP:0009830
35 opacification of the corneal stroma 31 occasional (7.5%) HP:0007759
36 strabismus 31 frequent (33%) HP:0000486
37 thin skin 31 hallmark (90%) HP:0000963
38 cryptorchidism 31 frequent (33%) HP:0000028
39 melanocytic nevus 31 occasional (7.5%) HP:0000995
40 alopecia 31 occasional (7.5%) HP:0001596
41 reduced tendon reflexes 31 occasional (7.5%) HP:0001315
42 hypopigmented skin patches 31 frequent (33%) HP:0001053
43 cerebral cortical atrophy 31 occasional (7.5%) HP:0002120
44 hypogonadism 31 hallmark (90%) HP:0000135
45 intellectual disability, progressive 31 hallmark (90%) HP:0006887
46 blepharitis 31 occasional (7.5%) HP:0000498
47 decreased testicular size 31 occasional (7.5%) HP:0008734
48 conjunctival telangiectasia 31 hallmark (90%) HP:0000524
49 telangiectasia of the skin 31 hallmark (90%) HP:0100585
50 erythema 31 frequent (33%) HP:0010783

GenomeRNAi Phenotypes related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.89 CETN2 XPA DDB1 XPC DDB2 XRCC1
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.77 TP53 CUL4A DDB2 XRCC1 ERCC1 XRCC3
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.77 TP53 CUL4A DDB2 XRCC1 ERCC1 XRCC3

MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Variant Type:

43 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.41 POLI HPRT1 RAD23B TP53 OGG1 XPA
2 growth/size/body region MP:0005378 10.35 HPRT1 RAD23B TP53 POLH XPA XPC
3 homeostasis/metabolism MP:0005376 10.25 ERCC5 POLI HPRT1 RAD23B OGG1 TP53
4 hematopoietic system MP:0005397 10.2 ERCC5 POLI HPRT1 OGG1 TP53 POLH
5 mortality/aging MP:0010768 10.19 HPRT1 RAD23B TP53 OGG1 XPC XRCC1
6 immune system MP:0005387 10.18 POLI HPRT1 RAD23B OGG1 TP53 POLH
7 integument MP:0010771 10.11 HPRT1 RAD23B TP53 POLH XPA XPC
8 craniofacial MP:0005382 10.04 RAD23B HPRT1 TP53 POLH XPA CETN2
9 neoplasm MP:0002006 9.97 POLI HPRT1 TP53 OGG1 POLH XPA
10 liver/biliary system MP:0005370 9.92 ERCC5 HPRT1 OGG1 TP53 XPA CUL4A
11 pigmentation MP:0001186 9.35 HPRT1 TP53 POLH XPA ERCC2
12 vision/eye MP:0005391 9.28 HPRT1 RAD23B TP53 XPA XPC CETN2

Drugs & Therapeutics for Xeroderma Pigmentosum, Variant Type

Drugs for Xeroderma Pigmentosum, Variant Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenalidomide Approved Phase 2 191732-72-6 216326
2 Angiogenesis Inhibitors Phase 2
3 Angiogenesis Modulating Agents Phase 2
4 Anti-Bacterial Agents Phase 2
5 Anti-Infective Agents Phase 2
6 Immunosuppressive Agents Phase 2
7
Isotretinoin Approved Not Applicable 4759-48-2 5282379 5538
8 Dermatologic Agents ,Not Applicable
9 Protective Agents
10 Radiation-Protective Agents
11 Sunscreening Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 T4N5 Liposome Lotion Compared With Placebo Lotion for Preventing Actinic Keratoses in Patients With Xeroderma Pigmentosum Unknown status NCT00002811 Phase 3 liposomal T4N5 lotion
2 Lenalidomide in Kaposi Disease Associated With HIV Infection Terminated NCT01282047 Phase 2 Lenalidomide
3 Xeroderma Pigmentosum Patient Experiences Unknown status NCT01123694
4 Influence of Genetic Polymorphisms in the Pathogenesis of Endometriosis in Sardinian Population Unknown status NCT02388854
5 Use of an SPF30 Sunscreen and an After-sun-lotion in Skin Cancer Risk Patients Completed NCT00555633
6 Isotretinoin in Preventing Skin Cancer Completed NCT00025012 Not Applicable isotretinoin
7 Cancer Risk in Carriers of the Gene for Xeroderma Pigmentosum Recruiting NCT00046189
8 Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy Recruiting NCT00001813
9 XPAND Trial: Enhancing XP Photoprotection Activities - New Directions Not yet recruiting NCT03445052 Not Applicable
10 Actinic Cheilitis Pre-Treated With DNA Repair Enzyme Cream Withdrawn NCT03224715 Not Applicable

Search NIH Clinical Center for Xeroderma Pigmentosum, Variant Type

Cochrane evidence based reviews: xeroderma pigmentosum

Genetic Tests for Xeroderma Pigmentosum, Variant Type

Genetic tests related to Xeroderma Pigmentosum, Variant Type:

# Genetic test Affiliating Genes
1 Xeroderma Pigmentosum, Variant Type 28 POLH
2 Xeroderma Pigmentosum 28 ERCC1

Anatomical Context for Xeroderma Pigmentosum, Variant Type

MalaCards organs/tissues related to Xeroderma Pigmentosum, Variant Type:

38
Skin, Eye

Publications for Xeroderma Pigmentosum, Variant Type

Articles related to Xeroderma Pigmentosum, Variant Type:

(show top 50) (show all 735)
# Title Authors Year
1
Xeroderma pigmentosum group C protein interacts with histones: regulation by acetylated states of histone H3. ( 28233440 )
2017
2
Xeroderma pigmentosum complementation group F: A rare cause of cerebellar ataxia with chorea. ( 28431612 )
2017
3
New polymorphisms of Xeroderma Pigmentosum DNA repair genes in myelodysplastic syndrome. ( 28472728 )
2017
4
Analysis of DNA binding by human factor xeroderma pigmentosum complementation group A (XPA) provides insight into its interactions with nucleotide excision repair substrates. ( 28860187 )
2017
5
Xeroderma pigmentosum-Cockayne syndrome complex. ( 28376890 )
2017
6
Diagnosis of Xeroderma pigmentosum variant in a young patient with two novel mutations in the POLH gene. ( 28688171 )
2017
7
Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis-Cacchione Syndrome and a Novel XPC Mutation. ( 28255305 )
2017
8
Role of DNA Repair Factor Xeroderma Pigmentosum Protein Group C in Response to Replication Stress As Revealed by DNA Fragile Site Affinity Chromatography and Quantitative Proteomics. ( 27794614 )
2016
9
Xeroderma pigmentosum, complementation group D expression in H1299 lung cancer cells following benzo[a]pyrene exposure as well as in head and neck cancer patients. ( 26731659 )
2016
10
Elevated Urinary Levels of 8-Hydroxy-2'-deoxyguanosine in a Japanese Child of Xeroderma Pigmentosum/Cockayne Syndrome Complex with Infantile Onset of Nephrotic Syndrome. ( 27396511 )
2016
11
Contribution of DNA Repair Xeroderma Pigmentosum Group D Genotypes to Colorectal Cancer Risk in Taiwan. ( 27069143 )
2016
12
Xeroderma pigmentosum group C sensor: unprecedented recognition strategy and tight spatiotemporal regulation. ( 26521083 )
2016
13
Phase 2 Study of Trabectedin in Patients With Hormone Receptor-Positive, HER-2-Negative, Advanced Breast Carcinoma According to Expression of Xeroderma Pigmentosum G Gene. ( 27266804 )
2016
14
Xeroderma pigmentosum: low prevalence of germline XPA mutations in a Brazilian XP population. ( 25913378 )
2015
15
Clinical profile and mutation analysis of xeroderma pigmentosum in Indian patients. ( 25566891 )
2015
16
Clinicopathological characteristics of xeroderma pigmentosum associated with keratoacanthoma in an infant. ( 26458699 )
2015
17
SUMOylation of xeroderma pigmentosum group C protein regulates DNA damage recognition during nucleotide excision repair. ( 26042670 )
2015
18
Bilateral enucleation avoided by excision with mitomycin C for bilateral infiltrating conjunctival squamous cell carcinoma in a girl with xeroderma pigmentosum. ( 25976132 )
2015
19
Overview of xeroderma pigmentosum proteins architecture, mutations and post-translational modifications. ( 25795128 )
2015
20
Contribution of DNA Repair Xeroderma Pigmentosum Group D Genotype to Gastric Cancer Risk in Taiwan. ( 26254397 )
2015
21
Management of keratoacanthoma in patients with xeroderma pigmentosum: a challenge for clinicians. ( 26388200 )
2015
22
Novel mutation in the XPC gene: a case report of a patient with xeroderma pigmentosum. ( 26227012 )
2015
23
Importance of genotype-phenotype correlation in xeroderma pigmentosum. ( 25827741 )
2015
24
Functional regulation of the DNA damage-recognition factor DDB2 by ubiquitination and interaction with xeroderma pigmentosum group C protein. ( 25628365 )
2015
25
Multiple facial basal cell carcinomas in xeroderma pigmentosum treated with topical imiquimod 5% cream. ( 25754701 )
2015
26
Readthrough of stop codons by use of aminoglycosides in cells from xeroderma pigmentosum group C patients. ( 25651777 )
2015
27
A meta-analysis of xeroderma pigmentosum gene D Ls751Gln polymorphism and susceptibility to hepatocellular carcinoma. ( 26722489 )
2015
28
Xeroderma pigmentosum and its dental implications. ( 25713498 )
2015
29
TFIIH subunit alterations causing xeroderma pigmentosum and trichothiodystrophy specifically disturb several steps during transcription. ( 25620205 )
2015
30
Xeroderma pigmentosum complementation group C protein (XPC) expression in basal cell carcinoma. ( 25600527 )
2015
31
Atypical Clinical Presentation of Xeroderma Pigmentosum in a Patient Harboring a Novel Missense Mutation in the XPC Gene: The Importance of Clinical Suspicion. ( 26278556 )
2015
32
The Association of the Xeroderma Pigmentosum Group D DNA Helicase (XPD) with Transcription Factor IIH Is Regulated by the Cytosolic Iron-Sulfur Cluster Assembly Pathway. ( 25897079 )
2015
33
A unified model for the molecular basis of Xeroderma pigmentosum-Cockayne Syndrome. ( 26460500 )
2015
34
Xeroderma Pigmentosum Group A Suppresses Mutagenesis Caused by Clustered Oxidative DNA Adducts in the Human Genome. ( 26559182 )
2015
35
Clinicopathological characteristics of xeroderma pigmentosum associated with keratoacanthoma: a case report and literature review. ( 25419376 )
2014
36
Inhalation anesthesia in a patient with xeroderma pigmentosum: a case report. ( 25289371 )
2014
37
Living with Xeroderma Pigmentosum: Comprehensive Photoprotection for Highly Photosensitive Patients. ( 24417420 )
2014
38
Xeroderma pigmentosum group D polymorphisms and esophageal cancer susceptibility: a meta-analysis based on case-control studies. ( 25469049 )
2014
39
Basaloid Squamous Carcinoma of Skin Associated with Xeroderma Pigmentosum in an 8-year-old Child: A Rare Entity. ( 25484421 )
2014
40
Invasive basal cell carcinoma in a xeroderma pigmentosum patient: facing secondary and tertiary aggressive recurrences. ( 24978686 )
2014
41
Forty Years of Research on Xeroderma Pigmentosum at the US National Institutes of Health. ( 25220021 )
2014
42
Effect of point substitutions within the minimal DNA-binding domain of xeroderma pigmentosum group A protein on interaction with DNA intermediates of nucleotide excision repair. ( 25100013 )
2014
43
Association of polymorphisms of the xeroderma pigmentosum complementation group F gene with increased glioma risk. ( 24938470 )
2014
44
Xeroderma pigmentosum in Ghanaians: a report of three cases and review of literature. ( 24872274 )
2014
45
Role of isotretinoin in cancer prevention and management in malignancies associated with xeroderma pigmentosum. ( 25603690 )
2014
46
A founder large deletion mutation in Xeroderma pigmentosum-Variant form in Tunisia: implication for molecular diagnosis and therapy. ( 24877075 )
2014
47
Binding of HIV-1 Vpr protein to the human homolog of the yeast DNA repair protein RAD23 (hHR23A) requires its xeroderma pigmentosum complementation group C binding (XPCB) domain as well as the ubiquitin-associated 2 (UBA2) domain. ( 24318982 )
2014
48
Genotype-phenotype correlation of Xeroderma pigmentosum in Chinese Han population. ( 25256075 )
2014
49
Xeroderma pigmentosum: diagnostic procedures, interdisciplinary patient care, and novel therapeutic approaches. ( 25262888 )
2014
50
Tritiated thymidine: xeroderma pigmentosum and DNA repair. ( 24990958 )
2014

Variations for Xeroderma Pigmentosum, Variant Type

UniProtKB/Swiss-Prot genetic disease variations for Xeroderma Pigmentosum, Variant Type:

71
# Symbol AA change Variation ID SNP ID
1 POLH p.Arg111His VAR_021227 rs758423288
2 POLH p.Thr122Pro VAR_021228
3 POLH p.Gly263Val VAR_021230
4 POLH p.Arg361Ser VAR_021232
5 POLH p.Lys535Glu VAR_021234 rs56307355
6 POLH p.Lys589Thr VAR_021236 rs121908565
7 POLH p.Arg93Pro VAR_070836 rs756931657
8 POLH p.Val266Asp VAR_070837
9 POLH p.Gly295Arg VAR_070838
10 POLH p.Thr692Ala VAR_070839 rs199562456

ClinVar genetic disease variations for Xeroderma Pigmentosum, Variant Type:

6 (show all 19)
# Gene Variation Type Significance SNP ID Assembly Location
1 POLH POLH, 13-BP DEL, NT343 deletion Pathogenic
2 POLH POLH, 4-BP DEL, NT289 deletion Pathogenic
3 POLH POLH, 2-BP DEL, NT770 deletion Pathogenic
4 POLH NM_006502.2(POLH): c.916G> T (p.Glu306Ter) single nucleotide variant Pathogenic rs121908562 GRCh37 Chromosome 6, 43572383: 43572383
5 POLH POLH, DEL AND TRP297TER deletion Pathogenic
6 POLH NM_006502.2(POLH): c.376C> T (p.Gln126Ter) single nucleotide variant Pathogenic rs121908563 GRCh37 Chromosome 6, 43555112: 43555112
7 POLH NM_006502.2(POLH): c.1117C> T (p.Gln373Ter) single nucleotide variant Pathogenic rs121908564 GRCh37 Chromosome 6, 43578333: 43578333
8 POLH POLH, 104-BP DEL, NT661 deletion Pathogenic
9 POLH POLH, 1-BP DEL, 207G deletion Pathogenic
10 POLH POLH, 3-BP DEL, NT222 deletion Pathogenic
11 POLH NM_006502.2(POLH): c.1603A> G (p.Lys535Glu) single nucleotide variant Pathogenic/Likely pathogenic rs56307355 GRCh37 Chromosome 6, 43581755: 43581755
12 POLH NM_006502.2(POLH): c.1766A> C (p.Lys589Thr) single nucleotide variant Pathogenic rs121908565 GRCh37 Chromosome 6, 43581918: 43581918
13 POLH NM_006502.2(POLH): c.764+1G> A single nucleotide variant Pathogenic rs772570523 GRCh38 Chromosome 6, 43601092: 43601092
14 POLH NM_006502.2(POLH): c.907C> T (p.Arg303Ter) single nucleotide variant Pathogenic rs759607901 GRCh38 Chromosome 6, 43604637: 43604637
15 POLH NM_006502.2(POLH): c.490G> T (p.Glu164Ter) single nucleotide variant Pathogenic/Likely pathogenic rs767433001 GRCh37 Chromosome 6, 43555226: 43555226
16 POLH NM_006502.2(POLH): c.725C> G (p.Ser242Ter) single nucleotide variant Pathogenic rs745778317 GRCh37 Chromosome 6, 43568789: 43568789
17 POLH NM_006502.2(POLH): c.1661delA (p.Asn555Thrfs) deletion Pathogenic rs886039225 GRCh37 Chromosome 6, 43581813: 43581813
18 POLH NM_006502.2(POLH): c.1075-?_1244+?del deletion Pathogenic GRCh38 Chromosome 6, 43607987: 43611911
19 ERCC2 NM_000400.3(ERCC2): c.1847G> C (p.Arg616Pro) single nucleotide variant Pathogenic/Likely pathogenic rs376556895 GRCh38 Chromosome 19, 45352801: 45352801

Expression for Xeroderma Pigmentosum, Variant Type

Search GEO for disease gene expression data for Xeroderma Pigmentosum, Variant Type.

Pathways for Xeroderma Pigmentosum, Variant Type

Pathways related to Xeroderma Pigmentosum, Variant Type according to KEGG:

36
# Name Kegg Source Accession
1 Nucleotide excision repair hsa03420

Pathways related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.3 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
2
Show member pathways
12.84 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
3
Show member pathways
12.67 CUL4A DDB1 OGG1 RPA2 XRCC1
4
Show member pathways
12.58 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 OGG1
5 12.24 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4
6
Show member pathways
12.19 ERCC1 ERCC4 POLH RPA2 XRCC3
7
Show member pathways
12.16 CUL4A DDB1 POLH POLI RPA2
8 11.93 DDB2 ERCC5 TP53 XPC
9 11.91 ERCC2 ERCC3 TP53 XPA XPC
10 11.78 ERCC1 ERCC4 POLH POLI RPA2
11 11.62 ERCC1 POLH TP53 XPA
12
Show member pathways
11.5 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
13 11.31 ERCC1 ERCC2 ERCC3 ERCC4 POLH XPA

GO Terms for Xeroderma Pigmentosum, Variant Type

Cellular components related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 Cul4-RING E3 ubiquitin ligase complex GO:0080008 9.65 CUL4A DDB1 DDB2
2 DNA replication factor A complex GO:0005662 9.63 ERCC5 RPA2 XPA
3 nuclear chromosome, telomeric region GO:0000784 9.63 DDB1 ERCC1 ERCC4 RPA2 XRCC1 XRCC3
4 holo TFIIH complex GO:0005675 9.61 ERCC2 ERCC3 ERCC5
5 nucleoplasm GO:0005654 9.6 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
6 Cul4A-RING E3 ubiquitin ligase complex GO:0031464 9.54 CUL4A DDB1
7 ERCC4-ERCC1 complex GO:0070522 9.54 ERCC1 ERCC4 XRCC1
8 core TFIIH complex GO:0000439 9.52 ERCC2 ERCC3
9 Cul4B-RING E3 ubiquitin ligase complex GO:0031465 9.51 DDB1 DDB2
10 nucleotide-excision repair factor 1 complex GO:0000110 9.5 ERCC1 ERCC4 XPA
11 nucleotide-excision repair complex GO:0000109 9.49 ERCC1 ERCC4
12 XPC complex GO:0071942 9.43 CETN2 RAD23B XPC
13 transcription factor TFIID complex GO:0005669 9.35 ERCC1 ERCC2 ERCC3 ERCC4 TP53
14 nucleus GO:0005634 10.36 CETN2 DDB1 DDB2 ERCC1 ERCC2 ERCC3

Biological processes related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

(show all 45)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.99 OGG1 TP53 XPC XRCC1
2 base-excision repair GO:0006284 9.97 OGG1 RPA2 TP53 XPA XRCC1
3 nucleotide-excision repair, DNA incision, 3-to lesion GO:0006295 9.96 CUL4A DDB1 DDB2 ERCC1 ERCC2 ERCC3
4 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0043161 9.95 CUL4A DDB1 RAD23B TP53
5 UV-damage excision repair GO:0070914 9.95 DDB1 DDB2 ERCC1 XPA XPC
6 double-strand break repair via homologous recombination GO:0000724 9.91 ERCC4 RPA2 XRCC1 XRCC3
7 interstrand cross-link repair GO:0036297 9.91 ERCC1 ERCC4 RPA2 XRCC3
8 embryonic organ development GO:0048568 9.9 ERCC1 ERCC2 ERCC3 RAD23B
9 DNA recombination GO:0006310 9.86 ERCC1 RPA2 XRCC3
10 regulation of mitotic cell cycle phase transition GO:1901990 9.86 DDB1 ERCC2 ERCC3 XPC
11 multicellular organism growth GO:0035264 9.85 ERCC1 ERCC2 XPA
12 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.85 CUL4A DDB1 DDB2 ERCC1 ERCC2 ERCC3
13 double-strand break repair via nonhomologous end joining GO:0006303 9.82 ERCC1 ERCC4 XRCC1
14 DNA damage response, detection of DNA damage GO:0042769 9.8 CUL4A DDB1 RPA2
15 translesion synthesis GO:0019985 9.8 POLH POLI RPA2
16 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.77 ERCC1 ERCC4 XRCC1
17 telomeric DNA-containing double minutes formation GO:0061819 9.76 ERCC1 ERCC4 XRCC1
18 error-prone translesion synthesis GO:0042276 9.7 POLI RPA2
19 error-free translesion synthesis GO:0070987 9.69 POLH RPA2
20 t-circle formation GO:0090656 9.68 ERCC1 XRCC3
21 histone H2A monoubiquitination GO:0035518 9.68 DDB1 DDB2
22 response to auditory stimulus GO:0010996 9.68 XPA XPC
23 response to UV-B GO:0010224 9.67 TP53 XPC
24 negative regulation of telomerase activity GO:0051974 9.67 ERCC4 TP53
25 response to UV-C GO:0010225 9.67 ERCC5 POLH
26 mitotic G1 DNA damage checkpoint GO:0031571 9.66 RPA2 TP53
27 regulation of DNA damage checkpoint GO:2000001 9.65 CUL4A RPA2
28 nucleotide-excision repair, DNA incision, 5-to lesion GO:0006296 9.65 CUL4A DDB1 DDB2 ERCC1 ERCC2 ERCC3
29 hair cell differentiation GO:0035315 9.64 ERCC2 ERCC3
30 pyrimidine dimer repair GO:0006290 9.64 DDB2 POLH
31 negative regulation of telomere maintenance GO:0032205 9.63 ERCC1 ERCC4
32 nucleotide-excision repair involved in interstrand cross-link repair GO:1901255 9.62 ERCC4 XPA
33 nucleotide-excision repair, DNA duplex unwinding GO:0000717 9.28 CETN2 CUL4A DDB1 DDB2 ERCC2 ERCC3
34 cellular response to DNA damage stimulus GO:0006974 10.47 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
35 DNA repair GO:0006281 10.43 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
36 nucleotide-excision repair GO:0006289 10.3 CETN2 DDB1 DDB2 ERCC1 ERCC2 ERCC3
37 global genome nucleotide-excision repair GO:0070911 10.17 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
38 nucleotide-excision repair, DNA incision GO:0033683 10.14 CUL4A DDB1 DDB2 ERCC1 ERCC2 ERCC3
39 nucleotide-excision repair, preincision complex assembly GO:0006294 10.11 CETN2 CUL4A DDB1 DDB2 ERCC2 ERCC3
40 response to UV GO:0009411 10.08 DDB2 ERCC2 ERCC3 ERCC4 ERCC5 TP53
41 viral process GO:0016032 10.06 CUL4A DDB1 ERCC2 ERCC3 TP53
42 response to oxidative stress GO:0006979 10.05 ERCC1 ERCC2 ERCC3 OGG1 TP53 XPA
43 nucleotide-excision repair, DNA damage recognition GO:0000715 10.05 CETN2 CUL4A DDB1 DDB2 RAD23B XPA
44 transcription-coupled nucleotide-excision repair GO:0006283 10.02 CUL4A DDB1 ERCC1 ERCC2 ERCC3 ERCC4
45 UV protection GO:0009650 10 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 XPA

Molecular functions related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 protein C-terminus binding GO:0008022 9.8 ERCC1 ERCC2 ERCC3 ERCC4 TP53
2 endonuclease activity GO:0004519 9.73 ERCC1 ERCC4 ERCC5 OGG1
3 protein N-terminus binding GO:0047485 9.73 ERCC2 ERCC3 ERCC4 ERCC5 RPA2 TP53
4 nuclease activity GO:0004518 9.7 ERCC1 ERCC4 ERCC5
5 DNA-dependent ATPase activity GO:0008094 9.63 ERCC2 ERCC3 XRCC3
6 RNA polymerase II carboxy-terminal domain kinase activity GO:0008353 9.51 ERCC2 ERCC3
7 3 overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 9.5 ERCC1 ERCC4 XRCC1
8 single-stranded DNA binding GO:0003697 9.5 ERCC1 ERCC4 ERCC5 RAD23B RPA2 XPC
9 TFIID-class transcription factor binding GO:0001094 9.49 ERCC1 ERCC4
10 bubble DNA binding GO:0000405 9.48 ERCC5 XPC
11 damaged DNA binding GO:0003684 9.47 DDB1 DDB2 ERCC1 ERCC3 ERCC4 OGG1
12 protein binding GO:0005515 10.37 CETN2 CUL4A DDB1 DDB2 ERCC1 ERCC2
13 DNA binding GO:0003677 10 DDB1 DDB2 ERCC1 ERCC2 ERCC3 ERCC4

Sources for Xeroderma Pigmentosum, Variant Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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